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Discovering the causes of cancer and the means of prevention

Laboratory of Translational Genomics Research


Technician analyzing genotype data scatterplots from a nano-fluidics SNP genotyping platformThe Laboratory of Translational Genomics (LTG) investigates the biological basis of common inherited genetic variants associated with cancer susceptibility. Together with the NCI Cancer Genomics Research Laboratory (CGR), formerly known as the Core Genotyping Facility (CGF), the Laboratory carries out genome-wide association studies (GWAS).

Using data from large-scale GWAS that evaluate hundreds of thousands of single nucleotide polymorphisms (SNPs), investigators at the LTG are studying the associations between genetic markers and cancer risk. To understand the biology underlying these associations, investigators are following up with focused validation studies, deep-sequencing, and functional analyses, such as analyses of expression levels and methylation patterns. This research relies on multidisciplinary approaches from population genetics, epidemiology and molecular evolution.

LTG has a series of international collaborations collecting cancer patient material and data for pediatric and adult cancers.

LTG works closely with the NCI CGR. CGR designs and conducts high throughput sequencing and genotyping in support of large-scale epidemiologic studies within the Division of Cancer Epidemiology and Genetics. CGR is also involved in the development of powerful bioinformatics tools that handle high volume genotype data generated from GWAS.

Genome-Wide Association Studies

Linkage disequilibrium heat mapGWAS have yielded close to 750 regions in the genome associated with 135 different diseases and traits. Of these, over 500 regions are associated with nearly two dozen cancers, and at least 30 regions are associated with multiple cancers. To more fully understand these novel findings, laboratory studies at the LTG are identifying the causal variants responsible for these associations through validation, deep sequencing, and translational work. In doing so, researchers are providing functional and biological insights into the mechanisms of carcinogenesis.

These efforts would not be possible without NCI’s long term investment in the Cohort Consortium, an international partnership of four million people from 41 cohorts, comprised of diverse populations. The cohorts provide extensive risk factor data and biospecimens, including germline DNA.

Partnerships and Collaborations

Collaborations and partnerships play a pivotal role in the next wave of genome-wide association studies. Data pooling has become essential in order to achieve the statistical power necessary to detect associations between genomic variants and a variety of health outcomes. High-density chips and emerging technologies now allow the genotyping of millions of SNPs across the genome. Partnerships between the LTG and numerous NCI grantee research organizations are underway, allowing investigation into carcinogenic pathways and gene-environment interactions.